ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.836G>A (p.Cys279Tyr)

dbSNP: rs1971033478
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bruce Lefroy Centre, Murdoch Childrens Research Institute RCV001072152 SCV001235718 likely pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2020-01-01 criteria provided, single submitter research PM2, PM3, PP3, PP1. Affected siblings carry this variant in trans with WDR62 variant: NM_001083961(WDR62):c.1480G>A, p. Gly494Arg ClinVar:VCV000160249

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